scholarly journals Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Karim N. Daou ◽  
Abir Barhoumi ◽  
Amina Bassyouni ◽  
Pascale E. Karam

Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities. Nowadays, early diagnosis and therapy with nitisinone can reverse the clinical picture. In developing countries, diagnostic and therapeutic challenges may affect the outcome of this disease. The choice of the treatment modality may depend on the economic status of each country. Few reports on the long-term outcome of hereditary tyrosinemia type 1 are available from developing and Arab countries.Methods: A retrospective study of charts of Lebanese patients diagnosed with tyrosinemia type 1 and followed, at the American University of Beirut, during a 12-year period was performed. Clinical presentation and liver biochemical profile at diagnosis were analyzed, along with therapeutic modalities and long-term outcome.Results: Twenty-two children were diagnosed and followed during the study period. Median age at diagnosis was 7 months (range: one day to 35 months). Most of the patients presented with hepatomegaly and jaundice. Four patients were referred for atypical presentations with developmental delay and seizures, secondary to undiagnosed hypoglycemia episodes. Around half of the patients presented with failure to thrive. Transaminitis, cholestasis and increased α-fetoprotein level were variably present at diagnosis (36% to 50%). All patients had elevated plasma tyrosine and urinary succinylacetone levels. Genetic testing was performed in 9%. Only one third could be treated with nitisinone. Liver transplant was electively performed in 9% of cases, to overcome the long-term cost of nitisinone. One third of the patients died between the age of 1 month and 11 years. Surviving patients are still candidates for liver transplant.Conclusion: Our experience reflects the challenges of diagnosis and treatment of hereditary tyrosinemia type 1 in a developing country. In the absence of specific neonatal screening, early diagnosis relies mostly on the clinical awareness of the physician. Long-term nitisinone use may be deterred by its high cost and liver transplantation carries risks of surgical complications. New, effective, and less expensive treatments are needed, especially for developing countries.

2011 ◽  
Vol 53 (6) ◽  
pp. 985-989 ◽  
Author(s):  
Maria Luz Couce ◽  
Jaime Dalmau ◽  
Mireia del Toro ◽  
Guillem Pintos-Morell ◽  
Luís Aldámiz-Echevarría ◽  
...  

2018 ◽  
Vol 2 (11) ◽  
pp. 1314-1319 ◽  
Author(s):  
Suruchi Gupta ◽  
Teresa Pollack ◽  
Candice Fulkerson ◽  
Kathleen Schmidt ◽  
Diana Johnson Oakes ◽  
...  

Abstract Objective To characterize the types of hyperglycemia that occur up to 1 year following liver transplant and to clarify the nomenclature for posttransplant hyperglycemia. Design We analyzed 1-year glycemic follow-up data in 164 patients who underwent liver transplant and who had been enrolled in a randomized controlled trial comparing moderate to intensive insulin therapy to determine if patients had preexisting known diabetes, transient hyperglycemia, persistent hyperglycemia, or new-onset diabetes after transplantation (NODAT). Results Of 119 patients with posttransplant hyperglycemia following hospital discharge, 49 had preexisting diabetes, 5 had insufficient data for analysis, 48 had transient hyperglycemia (16 resolved within 30 days and 32 resolved between 30 days and 1 year), 13 remained persistently hyperglycemic out to 1 year and most likely had preexisting diabetes that had not been diagnosed or insulin resistance/insulinopenia prior to transplant, and 4 had NODAT (i.e., patients with transient hyperglycemia after transplant that resolved but then later truly developed sustained hyperglycemia, meeting criteria for diabetes). Conclusions Distinct categories of patients with hyperglycemia following organ transplant include known preexisting diabetes, persistent hyperglycemia (most likely unknown preexisting diabetes or insulin resistance/insulinopenia), transient hyperglycemia, and NODAT. Those with preexisting diabetes for many years prior to transplant may well have very different long-term outcomes compared with those with true NODAT. Therefore, it would be prudent to classify patients more carefully. Long-term outcome studies are needed to determine if patients with true NODAT have the same poor prognosis as patients with preexisting diabetes (diagnosed and undiagnosed) undergoing transplant.


HPB ◽  
2019 ◽  
Vol 21 ◽  
pp. S1002
Author(s):  
V.J. Lozanovski ◽  
E. Khajeh ◽  
C.W. Michalski ◽  
H. Fonouni ◽  
R. von Haken ◽  
...  

HPB ◽  
2019 ◽  
Vol 21 ◽  
pp. S780
Author(s):  
V.J. Lozanovski ◽  
E. Khajeh ◽  
C.W. Michalski ◽  
H. Fonouni ◽  
R. von Haken ◽  
...  

2002 ◽  
Vol 36 ◽  
pp. 112-113
Author(s):  
Sylvania Cauduro ◽  
David Douglas ◽  
Jorge Rakela ◽  
Rolland Dickson ◽  
Russell Wiesner ◽  
...  

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